Marfanoid–progeroid–lipodystrophy syndrome

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Marfanoid–progeroid–lipodystrophy syndrome
File:Protein FBN1 PDB 1apj.png
Synonyms MPL syndrome
Pronounce N/A
Specialty Medical genetics
Symptoms Marfanoid habitus, progeroid features, lipodystrophy
Complications N/A
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Cardiovascular complications, metabolic disorders
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis Marfan syndrome, progeria, lipodystrophy syndromes
Prevention N/A
Treatment Symptomatic treatment, multidisciplinary care
Medication N/A
Prognosis Variable, depends on complications
Frequency Rare
Deaths N/A


Marfanoid–progeroid–lipodystrophy syndrome (MPLS) is a rare genetic disorder characterized by features of Marfan syndrome, progeroid syndrome, and lipodystrophy.

Symptoms and Signs[edit]

The symptoms of MPLS can vary greatly from person to person. However, common symptoms include:

Causes[edit]

MPLS is caused by mutations in the FBN1 gene. This gene provides instructions for making a protein called fibrillin-1, which is an important component of connective tissues. Mutations in the FBN1 gene disrupt the normal function of fibrillin-1, leading to the various symptoms of MPLS.

Diagnosis[edit]

Diagnosis of MPLS is based on the presence of characteristic symptoms and confirmed by genetic testing to identify mutations in the FBN1 gene.

Treatment[edit]

There is currently no cure for MPLS. Treatment is focused on managing symptoms and may include physical therapy for joint stiffness, medication for pain, and cosmetic procedures for lipodystrophy.

See Also[edit]

References[edit]